MYD88 deficiency (recurrent pyogenic bacterial infections due to MYD88 deficiency)

Genetics

• autosomal recessive
• associated with defects in MYD88

Clinical manifestations

• pyogenic bacterial infections
  • life-threatening
  • often recurrent
  • invasive pneumococcal disease
• death common between 1 & 11 months of age
• surviving patients are otherwise healthy, with normal resistance to other microbes
• clinical status improves with age

Laboratory

• MYD88 gene p.Leu265Pro mutation

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/612260